EIF2AK2

eukaryotic translation initiation factor 2 alpha kinase 2
OMIM: 176871, ClinGen, DECIPHER

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green EIF2AK2 in Early-onset Parkinson disease Level 2: Neurology and neurodevelopmental disorders Version 3.32 Component of the following Super Panels: Movement Disorders Superpanel Neurodegenerative disease - adult onset Progressive Neurological Conditions	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, MIM# 618877 Neurodevelopmental Syndrome Developmental delays Ataxia Parkinsonism White matter alterations
Green EIF2AK2 in Mendeliome Version 2.588	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability white matter abnormalities ataxia regression with febrile illness Dystonia complex neurodevelopmental disorder MONDO:0100038
Green EIF2AK2 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.42 Component of the following Super Panels: Progressive Neurological Conditions	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, MIM# 618877
Green EIF2AK2 in Regression Level 2: Neurology and neurodevelopmental disorders Version 1.8	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability white matter abnormalities ataxia regression with febrile illness
Green EIF2AK2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.145	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability white matter abnormalities ataxia regression with febrile illness
Red EIF2AK2 in Ataxia Level 2: Neurology and neurodevelopmental disorders Version 2.157 Component of the following Super Panels: Movement Disorders Superpanel Neurodegenerative disease - adult onset Progressive Neurological Conditions	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, MONDO:0030035
Green EIF2AK2 in Dystonia and Chorea Level 2: Neurology and neurodevelopmental disorders Version 1.9 Component of the following Super Panels: Movement Disorders Superpanel Progressive Neurological Conditions	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Intellectual disability white matter abnormalities ataxia regression with febrile illness early onset dystonia
Green EIF2AK2 in Leukodystrophy Level 2: Neurology and neurodevelopmental disorders Version 1.10 Component of the following Super Panels: Progressive Neurological Conditions	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Intellectual disability white matter abnormalities ataxia regression with febrile illness